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Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families

✍ Scribed by Takeo Yoshimura; Akio Ohnishi; Tatsunori Yamamoto; Yoshimitsu Fukushima; Mitsuhiro Kitani; Takuro Kobayashi

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 418 KB
Volume: 8
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:3<270::aid-humu12>3.0.co;2-#

No coin nor oath required. For personal study only.

✦ Synopsis

Charcot-Marie-Tooth (CMT) disease consists of genetically heterogeneous neuropathies. Molecular genetic procedures have shown that most patients with CMT type 1 (autosomal dominant, hypertrophic form) have 1.5 Mb CMTlA duplication containing peripheral myelin protein-22 (PMP-22) gene

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